Total 24 pathogenic variants reported for Congenital insensitivity to pain-hypohidrosis syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn)	SNV Germline	Chr9:130666689	Pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	No Assertion Criteria Provided	CA10586201	rs_879255636	1 SubmittersRCV000239476
NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr)	SNV Germline	Chr9:130664744	Pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	No Assertion Criteria Provided	CA10586202	rs_879255637	1 SubmittersRCV000239529
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp)	SNV Germline	Chr9:130668259	Pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	Criteria Provided Single Submitter	CA10586203	rs_755205487	2 SubmittersRCV000239564
NM_021619.3(PRDM12):c.866A>T (p.His289Leu)	SNV Germline	Chr9:130681431	Pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	No Assertion Criteria Provided	CA10586204	rs_879255638	1 SubmittersRCV000239481
NM_021619.3(PRDM12):c.607G>A (p.Gly203Arg)	SNV Germline	Chr9:130678565	Conflicting classifications of pathogenicity	Congenital insensitivity to pain-hypohidrosis syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5284604	rs_375887892	3 SubmittersRCV000706791 RCV002352217 RCV005870814
NM_021619.3(PRDM12):c.503G>A (p.Arg168His)	SNV Germline	Chr9:130668246	Conflicting classifications of pathogenicity	Congenital insensitivity to pain-hypohidrosis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200650105	rs_1049529374	3 SubmittersRCV001228371 RCV004792825
NM_021619.3(PRDM12):c.224-1G>A	SNV Germline	Chr9:130666607	Pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	Criteria Provided Single Submitter	CA375246110	rs_2132588902	1 SubmittersRCV001385116
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly)	SNV Germline	Chr9:130681307	Conflicting classifications of pathogenicity	Congenital insensitivity to pain-hypohidrosis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA375244555	rs_2132608027	2 SubmittersRCV001563585 RCV001658296
NM_021619.3(PRDM12):c.788G>A (p.Arg263His)	SNV Germline	Chr9:130681353	Conflicting classifications of pathogenicity	Condition: not provided Congenital insensitivity to pain-hypohidrosis syndrome	Criteria Provided Conflicting Classifications	CA375244687	rs_2132608078	2 SubmittersRCV001655904 RCV001563586
NM_021619.3(PRDM12):c.785T>G (p.Met262Arg)	SNV Germline	Chr9:130681350	Pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	Criteria Provided Single Submitter	CA375244680	rs_2132608070	1 SubmittersRCV001805751
NM_021619.3(PRDM12):c.683-1G>A	SNV Germline	Chr9:130681247	Likely pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	No Assertion Criteria Provided	CA375244363	rs_2132607877	1 SubmittersRCV001843830
NM_021619.3(PRDM12):c.980G>C (p.Ser327Thr)	SNV Germline	Chr9:130681545	Conflicting classifications of pathogenicity	Congenital insensitivity to pain-hypohidrosis syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5284679	rs_747995562	3 SubmittersRCV002159935 RCV002372947 RCV006442651
NM_021619.3(PRDM12):c.381G>A (p.Val127=)	SNV Germline	Chr9:130666765	Conflicting classifications of pathogenicity	Congenital insensitivity to pain-hypohidrosis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200649520	rs_920723962	2 SubmittersRCV002143656 RCV003992618
NM_021619.3(PRDM12):c.455C>A (p.Ala152Asp)	SNV Germline	Chr9:130668198	Likely pathogenic	Congenital insensitivity to pain-hypohidrosis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005250538